Incidental Mutation 'IGL03166:Sltm'
ID |
411636 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sltm
|
Ensembl Gene |
ENSMUSG00000032212 |
Gene Name |
SAFB-like, transcription modulator |
Synonyms |
5730455C01Rik, 5730555F13Rik, 9130215G10Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.958)
|
Stock # |
IGL03166
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
70450036-70499516 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 70450251 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glutamic Acid
at position 17
(A17E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149511
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049263]
[ENSMUST00000213808]
[ENSMUST00000216816]
[ENSMUST00000217593]
|
AlphaFold |
Q8CH25 |
Predicted Effect |
unknown
Transcript: ENSMUST00000049263
AA Change: A17E
|
SMART Domains |
Protein: ENSMUSP00000049112 Gene: ENSMUSG00000032212 AA Change: A17E
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
SAP
|
22 |
56 |
2.49e-10 |
SMART |
low complexity region
|
74 |
86 |
N/A |
INTRINSIC |
coiled coil region
|
152 |
180 |
N/A |
INTRINSIC |
low complexity region
|
318 |
330 |
N/A |
INTRINSIC |
low complexity region
|
352 |
384 |
N/A |
INTRINSIC |
RRM
|
385 |
458 |
2.06e-16 |
SMART |
low complexity region
|
498 |
526 |
N/A |
INTRINSIC |
low complexity region
|
536 |
552 |
N/A |
INTRINSIC |
low complexity region
|
591 |
601 |
N/A |
INTRINSIC |
coiled coil region
|
635 |
727 |
N/A |
INTRINSIC |
low complexity region
|
824 |
853 |
N/A |
INTRINSIC |
low complexity region
|
979 |
990 |
N/A |
INTRINSIC |
low complexity region
|
1015 |
1028 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213362
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213808
AA Change: A17E
PolyPhen 2
Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215714
|
Predicted Effect |
unknown
Transcript: ENSMUST00000216816
AA Change: A17E
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217593
AA Change: A17E
PolyPhen 2
Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
Ankfn1 |
G |
T |
11: 89,429,264 (GRCm39) |
A40D |
probably benign |
Het |
Arhgap20 |
T |
A |
9: 51,761,077 (GRCm39) |
I940K |
possibly damaging |
Het |
Arhgap24 |
T |
C |
5: 103,023,552 (GRCm39) |
|
probably benign |
Het |
Bdp1 |
T |
C |
13: 100,172,308 (GRCm39) |
T2103A |
probably benign |
Het |
Cep350 |
A |
G |
1: 155,739,346 (GRCm39) |
S2166P |
possibly damaging |
Het |
Dlg2 |
T |
C |
7: 91,549,938 (GRCm39) |
|
probably benign |
Het |
Fhip2b |
A |
T |
14: 70,827,616 (GRCm39) |
C160S |
probably damaging |
Het |
Fyco1 |
A |
T |
9: 123,657,452 (GRCm39) |
L908H |
probably benign |
Het |
Gprc5b |
C |
A |
7: 118,583,222 (GRCm39) |
A216S |
probably benign |
Het |
Lamc1 |
A |
G |
1: 153,208,047 (GRCm39) |
V80A |
probably benign |
Het |
Lilra6 |
T |
C |
7: 3,915,626 (GRCm39) |
I370V |
possibly damaging |
Het |
Lim2 |
T |
A |
7: 43,080,047 (GRCm39) |
C11* |
probably null |
Het |
Lrp1b |
T |
A |
2: 41,001,050 (GRCm39) |
H2058L |
probably damaging |
Het |
Lrp3 |
G |
T |
7: 34,901,905 (GRCm39) |
L659I |
probably benign |
Het |
Lrrc8a |
T |
G |
2: 30,145,377 (GRCm39) |
S64A |
probably benign |
Het |
Lsr |
C |
T |
7: 30,661,522 (GRCm39) |
|
probably null |
Het |
Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
Man2c1 |
T |
A |
9: 57,046,382 (GRCm39) |
V479E |
probably damaging |
Het |
Mtf2 |
T |
A |
5: 108,254,586 (GRCm39) |
D462E |
probably benign |
Het |
Mx2 |
T |
C |
16: 97,347,990 (GRCm39) |
I205T |
probably damaging |
Het |
Nos1 |
T |
A |
5: 118,052,517 (GRCm39) |
|
probably benign |
Het |
Optc |
C |
T |
1: 133,831,530 (GRCm39) |
|
probably benign |
Het |
Or51e2 |
T |
C |
7: 102,391,254 (GRCm39) |
N319D |
probably benign |
Het |
Orm1 |
C |
A |
4: 63,262,831 (GRCm39) |
|
probably benign |
Het |
Pdzd8 |
T |
C |
19: 59,288,940 (GRCm39) |
E820G |
probably damaging |
Het |
Pkp1 |
A |
T |
1: 135,805,862 (GRCm39) |
M612K |
probably damaging |
Het |
Pno1 |
T |
A |
11: 17,154,513 (GRCm39) |
|
probably null |
Het |
Rbm34 |
T |
C |
8: 127,697,606 (GRCm39) |
Q35R |
probably damaging |
Het |
Ryr3 |
A |
T |
2: 112,471,457 (GRCm39) |
Y4564* |
probably null |
Het |
Slc34a3 |
T |
C |
2: 25,122,186 (GRCm39) |
I140V |
probably damaging |
Het |
Slc43a1 |
T |
C |
2: 84,687,700 (GRCm39) |
I419T |
possibly damaging |
Het |
Smpdl3b |
T |
C |
4: 132,468,842 (GRCm39) |
D125G |
probably benign |
Het |
Snorc |
A |
C |
1: 87,402,933 (GRCm39) |
|
probably benign |
Het |
Supt3 |
G |
T |
17: 45,234,106 (GRCm39) |
A48S |
probably damaging |
Het |
Tlr3 |
A |
G |
8: 45,855,965 (GRCm39) |
F72L |
probably benign |
Het |
Trim36 |
T |
C |
18: 46,345,388 (GRCm39) |
E15G |
probably benign |
Het |
Tubb4b-ps1 |
A |
T |
5: 7,229,965 (GRCm39) |
|
probably benign |
Het |
Vmn2r68 |
T |
C |
7: 84,871,331 (GRCm39) |
T651A |
probably benign |
Het |
Wdr76 |
G |
T |
2: 121,364,787 (GRCm39) |
V462F |
possibly damaging |
Het |
Wnk2 |
C |
A |
13: 49,224,520 (GRCm39) |
G1112* |
probably null |
Het |
Zfp868 |
A |
C |
8: 70,064,965 (GRCm39) |
C123W |
probably damaging |
Het |
Zyg11b |
T |
A |
4: 108,123,086 (GRCm39) |
M294L |
probably benign |
Het |
|
Other mutations in Sltm |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00577:Sltm
|
APN |
9 |
70,486,624 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01755:Sltm
|
APN |
9 |
70,491,204 (GRCm39) |
splice site |
probably null |
|
IGL01782:Sltm
|
APN |
9 |
70,480,923 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02441:Sltm
|
APN |
9 |
70,494,467 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02831:Sltm
|
APN |
9 |
70,492,147 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02947:Sltm
|
APN |
9 |
70,498,946 (GRCm39) |
missense |
probably benign |
0.05 |
R0288:Sltm
|
UTSW |
9 |
70,486,633 (GRCm39) |
missense |
probably damaging |
1.00 |
R0555:Sltm
|
UTSW |
9 |
70,493,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R0815:Sltm
|
UTSW |
9 |
70,469,190 (GRCm39) |
missense |
probably benign |
0.04 |
R0863:Sltm
|
UTSW |
9 |
70,469,190 (GRCm39) |
missense |
probably benign |
0.04 |
R1315:Sltm
|
UTSW |
9 |
70,450,347 (GRCm39) |
missense |
probably benign |
0.13 |
R1533:Sltm
|
UTSW |
9 |
70,493,948 (GRCm39) |
missense |
probably damaging |
1.00 |
R1676:Sltm
|
UTSW |
9 |
70,480,929 (GRCm39) |
missense |
probably damaging |
1.00 |
R1764:Sltm
|
UTSW |
9 |
70,469,082 (GRCm39) |
missense |
probably benign |
0.00 |
R1845:Sltm
|
UTSW |
9 |
70,450,314 (GRCm39) |
missense |
possibly damaging |
0.60 |
R2049:Sltm
|
UTSW |
9 |
70,488,583 (GRCm39) |
missense |
probably benign |
0.00 |
R2163:Sltm
|
UTSW |
9 |
70,498,964 (GRCm39) |
missense |
probably damaging |
0.99 |
R3410:Sltm
|
UTSW |
9 |
70,493,240 (GRCm39) |
missense |
probably damaging |
0.97 |
R4323:Sltm
|
UTSW |
9 |
70,487,529 (GRCm39) |
missense |
probably benign |
|
R4632:Sltm
|
UTSW |
9 |
70,486,651 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4748:Sltm
|
UTSW |
9 |
70,488,647 (GRCm39) |
missense |
probably damaging |
1.00 |
R4756:Sltm
|
UTSW |
9 |
70,498,892 (GRCm39) |
missense |
possibly damaging |
0.57 |
R4782:Sltm
|
UTSW |
9 |
70,496,339 (GRCm39) |
missense |
probably damaging |
1.00 |
R4799:Sltm
|
UTSW |
9 |
70,496,339 (GRCm39) |
missense |
probably damaging |
1.00 |
R4887:Sltm
|
UTSW |
9 |
70,496,260 (GRCm39) |
missense |
probably damaging |
1.00 |
R5221:Sltm
|
UTSW |
9 |
70,486,685 (GRCm39) |
missense |
probably damaging |
1.00 |
R5263:Sltm
|
UTSW |
9 |
70,492,081 (GRCm39) |
missense |
unknown |
|
R5982:Sltm
|
UTSW |
9 |
70,494,086 (GRCm39) |
missense |
probably damaging |
1.00 |
R6297:Sltm
|
UTSW |
9 |
70,488,641 (GRCm39) |
missense |
probably damaging |
0.99 |
R6456:Sltm
|
UTSW |
9 |
70,450,269 (GRCm39) |
missense |
probably damaging |
1.00 |
R6658:Sltm
|
UTSW |
9 |
70,488,644 (GRCm39) |
missense |
probably damaging |
1.00 |
R6720:Sltm
|
UTSW |
9 |
70,480,992 (GRCm39) |
missense |
probably damaging |
1.00 |
R6770:Sltm
|
UTSW |
9 |
70,492,059 (GRCm39) |
missense |
unknown |
|
R6923:Sltm
|
UTSW |
9 |
70,481,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R7051:Sltm
|
UTSW |
9 |
70,466,348 (GRCm39) |
missense |
probably damaging |
1.00 |
R7166:Sltm
|
UTSW |
9 |
70,492,132 (GRCm39) |
missense |
probably damaging |
1.00 |
R7257:Sltm
|
UTSW |
9 |
70,451,247 (GRCm39) |
splice site |
probably null |
|
R7400:Sltm
|
UTSW |
9 |
70,493,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R7438:Sltm
|
UTSW |
9 |
70,480,748 (GRCm39) |
missense |
unknown |
|
R7484:Sltm
|
UTSW |
9 |
70,481,179 (GRCm39) |
missense |
unknown |
|
R7630:Sltm
|
UTSW |
9 |
70,493,955 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7631:Sltm
|
UTSW |
9 |
70,493,955 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7632:Sltm
|
UTSW |
9 |
70,493,955 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7633:Sltm
|
UTSW |
9 |
70,493,955 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7862:Sltm
|
UTSW |
9 |
70,479,446 (GRCm39) |
nonsense |
probably null |
|
R7885:Sltm
|
UTSW |
9 |
70,493,955 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7886:Sltm
|
UTSW |
9 |
70,493,955 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7888:Sltm
|
UTSW |
9 |
70,493,955 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7889:Sltm
|
UTSW |
9 |
70,493,955 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7891:Sltm
|
UTSW |
9 |
70,493,955 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7915:Sltm
|
UTSW |
9 |
70,494,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R8030:Sltm
|
UTSW |
9 |
70,493,261 (GRCm39) |
nonsense |
probably null |
|
R8062:Sltm
|
UTSW |
9 |
70,480,779 (GRCm39) |
missense |
unknown |
|
R8099:Sltm
|
UTSW |
9 |
70,493,360 (GRCm39) |
missense |
probably damaging |
1.00 |
R8374:Sltm
|
UTSW |
9 |
70,469,227 (GRCm39) |
missense |
probably null |
|
R8698:Sltm
|
UTSW |
9 |
70,494,352 (GRCm39) |
missense |
probably benign |
0.27 |
R9541:Sltm
|
UTSW |
9 |
70,481,057 (GRCm39) |
missense |
unknown |
|
R9563:Sltm
|
UTSW |
9 |
70,480,841 (GRCm39) |
missense |
unknown |
|
|
Posted On |
2016-08-02 |